Literature DB >> 8521158

A pair of siblings with adiposo-genital dystrophy. 1922.

A Biedl.   

Abstract

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Year:  1995        PMID： 8521158     DOI： 10.1002/j.1550-8528.1995.tb00167.x

Source DB:  PubMed          Journal:  Obes Res        ISSN： 1071-7323


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  19 in total

1.  In search of triallelism in Bardet-Biedl syndrome.

Authors:  Leen Abu-Safieh; Shamsa Al-Anazi; Lama Al-Abdi; Mais Hashem; Hisham Alkuraya; Mushari Alamr; Mugtaba O Sirelkhatim; Zuhair Al-Hassnan; Basim Alkuraya; Jawahir Y Mohamed; Ahmad Al-Salem; May Alrashed; Eissa Faqeih; Ameen Softah; Amal Al-Hashem; Sami Wali; Zuhair Rahbeeni; Moeen Alsayed; Arif O Khan; Lihadh Al-Gazali; Peter E M Taschner; Selwa Al-Hazzaa; Fowzan S Alkuraya
Journal:  Eur J Hum Genet       Date:  2012-02-22       Impact factor: 4.246

2.  Bardet-Biedl syndrome.

Authors:  Elizabeth Forsythe; Philip L Beales
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

3.  Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Authors:  Sabine Janssen; Gokul Ramaswami; Erica E Davis; Toby Hurd; Rannar Airik; Jennifer M Kasanuki; Lauren Van Der Kraak; Susan J Allen; Philip L Beales; Nicholas Katsanis; Edgar A Otto; Friedhelm Hildebrandt
Journal:  Hum Genet       Date:  2010-10-30       Impact factor: 4.132

4.  Spot Diagnosis of a Daedalian Genetic Disorder: Bardet-Biedl Syndrome.

Authors:  Bharath Chhabria; Ram Nampoothiri; Vikas Suri; Sanjay Jain
Journal:  J Clin Diagn Res       Date:  2016-05-01

5.  TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice.

Authors:  Arlene V Drack; Alina V Dumitrescu; Sajag Bhattarai; Daniel Gratie; Edwin M Stone; Robert Mullins; Val C Sheffield
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-01-05       Impact factor: 4.799

6.  Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.

Authors:  Xue Mei; Trudi A Westfall; Qihong Zhang; Val C Sheffield; Alexander G Bassuk; Diane C Slusarski
Journal:  Dev Biol       Date:  2014-06-02       Impact factor: 3.582

7.  Bardet-Biedl syndrome: multiple fingers with multiple defects!

Authors:  Jagadesh Madireddi; Vasuveda Acharya; Jandhyala Suryanarayana; Handattu Manjunath Hande; Ranjan Shetty
Journal:  BMJ Case Rep       Date:  2015-11-26

8.  Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.

Authors:  Pamela R Pretorius; Lisa M Baye; Darryl Y Nishimura; Charles C Searby; Kevin Bugge; Baoli Yang; Robert F Mullins; Edwin M Stone; Val C Sheffield; Diane C Slusarski
Journal:  PLoS Genet       Date:  2010-03-19       Impact factor: 5.917

9.  Multifocal electroretinogram contributes to differentiation of various clinical pictures within a family with Bardet-Biedl syndrome.

Authors:  A Praidou; R Hagan; H Nayak; A Chandna
Journal:  Eye (Lond)       Date:  2014-07-04       Impact factor: 3.775

Review 10.  Olfactory cilia: linking sensory cilia function and human disease.

Authors:  Paul M Jenkins; Dyke P McEwen; Jeffrey R Martens
Journal:  Chem Senses       Date:  2009-04-30       Impact factor: 3.160
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